ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70743C>T (p.His23581=)

gnomAD frequency: 0.00004  dbSNP: rs375194057
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596443 SCV000704394 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001436245 SCV001639082 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000596443 SCV001804809 likely benign not provided 2019-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331014 SCV002627926 likely benign Cardiovascular phenotype 2021-01-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004735649 SCV005349398 likely benign TTN-related disorder 2024-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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